Autoinflammatory Disorders
Gene: PSMB9EnsemblGeneIds (GRCh38): ENSG00000240065
EnsemblGeneIds (GRCh37): ENSG00000240065
OMIM: 177045, Gene2Phenotype
PSMB9 is in 2 panels
2 reviews
Peter McNaughton (Queensland Children's Hospital)
2 unrelated patients and mouse model with heterozygous missense variant, G156DCreated: 13 Jul 2022, 10:41 p.m. | Last Modified: 13 Jul 2022, 10:41 p.m.
Panel Version: 0.150
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation
Publications
- PMID: 34819510
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals reported with mono-allelic variants in this gene and variants in other PRAAS genes, digenic model proposed.Created: 11 Apr 2020, 7:08 a.m. | Last Modified: 11 Apr 2020, 7:08 a.m.
Panel Version: 0.55
Mode of inheritance
Other
Phenotypes
Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Proteasome-associated autoinflammatory syndrome 6, MIM# 620796
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
- Proteasome-associated autoinflammatory syndrome 6, MIM# 620796
- OMIM
- 177045
- Clinvar variants
- Variants in PSMB9
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSMB9 were changed from Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Proteasome-associated autoinflammatory syndrome 6, MIM# 620796
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PSMB9 were set to 26524591
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: PSMB9 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PSMB9 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmb9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PSMB9 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PSMB9 was added gene: PSMB9 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PSMB9 was set to Unknown